Article

Establishing Analytical Validity of BeadChip Array Genotype Data by Comparison to Whole-Genome Sequence and Standard Benchmark Datasets

2021-07-28

Abstract excerpt

<h4>Background: </h4> Clinical use of genotype data requires high positive predictive value (PPV) and thorough understanding of the genotyping platform characteristics. BeadChip arrays, such as the Global Screening Array (GSA), potentially offer a high-throughput, low-cost clinical screen for known variants. We hypothesize that quality assessment and comparison to whole-genome sequence and benchmark data establish...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e9dfb4f6-4f2d-593a-b571-4782cef9e611
DOI: 10.21203/rs.3.rs-745072/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Establishing Analytical Validity of BeadChip Array Genotype Data by Comparison to Whole-Genome Sequence and Standard Benchmark DatasetsDOI 10.21203/rs.3.rs-745072/v1Read

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.Semantic proximity Read

Clinical validation, implementation, and reporting of polygenic risk scores for common diseasesSemantic proximity Read

Development and validation of a pharmacogenomics reporting workflow based on the Illumina Global Screening Array chipSemantic proximity Read

Development of a clinical polygenic risk score assay and reporting workflow.Semantic proximity Read

A precision metric for clinical genome sequencingSemantic proximity Read

Estimating genotype error rates from high-coverage next-generation sequence data.Semantic proximity Read

Empirical evaluation of analytic validity of polygenic scores.Semantic proximity Read

The GoldenGate genotyping assay: custom design, processing, and data analysis.Semantic proximity Read

Overview of Genotyping Technologies and Methods.Semantic proximity Read

Assessing the analytical validity of SNP-chips for detecting very rare pathogenic variants: implications for direct-to-consumer genetic testingSemantic proximity Read

R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips.Semantic proximity Read

Comparative evaluation of genotyping and low-pass sequencing for pharmacogenetic variant and phenotype inferenceSemantic proximity Read